I was tested for MTHFR gene defect in November. MTHFR stands for methylenetetrahydrofolate Reductase and is an enzyme. My test came back positive (+) for the MTHFR gene mutation, specifically, I have two copies of the C677T variation (C677T/ C677T). My friend tells me this is “the worst” diagnosis. I don’t know if it’s “the worst,” but am focusing on what it means and what I can do to help my body deal with this abnormality.
I am still sorting through information on the Internet. What seems to be consistent is that it is a fairly common gene mutation and it can adversely affect the homocysteine levels in the bloodstream, thereby having cardiovascular implications , such as stroke and cardiovascular disease. It also seems to have a role to play in the risk for colon cancer, as well as possibly for depression and other health problems.
I tried adding a MTHFR-5 (methylfolate) supplement to my diet and did not tolerate it well. I experienced a lot of anxiety, agitation, and insomnia with a methylfolate supplementation. I reduced the dose, but continued to have side effects. What has worked best, so far, is to add folate-rich foods to my diet. MTHFR Living site gives a summation of natural sources of nutrients that are good for people with an MTHFR defect, but it seems like a sensible list for everyone to follow.
I suspected I would test positive for the genetic mutation because I do not seem to metabolize well the B12 (methylcobalamin) injections I take for pernicious anemia (Pernicious anemia is an inability to absorb the Vitamin B12 in food because of an autoimmune disease.). Although my serum (blood) levels show high levels of B12, I feel like I don’t metabolize the injections very well, and I seem to need them more often than a PA diagnosis would indicate. My body also reacts strangely to the numbing agent used during dental procedures. The last time I had dental work, much to the surprise of my dentist, I had to have more numbing agent injected about halfway through the procedure. I suspect this might be related to the MTHFR mutation.
There is conflicting information on whether folic acid or folate is recommended to treat this variation. This medical source implies there is no difference between folic acid and folate (both are Vitamin B9). Other sources recommend avoiding folic acid in favor of more bio-available folate.
I have a lot of learning to do, but am starting to get a sense of what will work best for me. The good news is perhaps not surprising: some of the most folate-rich foods are ones I crave the most, such as spinach, asparagus, beans, beets, broccoli, mangos, and romaine lettuce. I keep a list of folate-rich foods on my fridge and make it a point to enjoy food with folate every day.